ClinVar Miner

List of variants in gene LDLR reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-156C>T rs879254364
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly)
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly)
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser)
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla)
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp) rs144614838
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) rs879254915
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1988-2A>G rs879255101
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser)
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2312-2A>C
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2412G>A (p.Leu804=) rs2077686564
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp)
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del)
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala)
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly) rs2077233012
NM_000527.5(LDLR):c.313+4_313+16del rs1555802822
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+6T>G rs879254468
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe) rs879254541
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala)
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) rs879254555
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) rs879254557
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp)
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer)
NM_000527.5(LDLR):c.670G>C (p.Asp224His)
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) rs1372739823
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr)
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) rs879254694
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser) rs879254746
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) rs879254746

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